Truth Stranger Than Fiction Found In My Genes

If you have been following my genealogy adventure, you have probably tuned into my excitement about my travels back in time. In the beginning of this journey my excitement was that of cleaning up my family's gene pool by potentially repairing DNA. Really. In recent years scientists had found that memories are passed down through generations in our DNA so my hopes were to repair the damage done to my family during the Spanish Inquisition. In the process, my interest in the Spanish Conquistador, Juan Onate's expedition and the huge part my ancestors played in that expedition have become my main interest. I have discovered 500 years of family history in my research.

DNA is like a computer program,
but far, far more advanced than any
software we’ve ever created - Bill Gates.

Meanwhile, my brother, Phillip, has been on his own quest to repair our DNA with music. Again, there are scientific studies that show that simply listening to a single musical note that vibrates at 528 Hz repairs your DNA.

Well, I asked for it, I didn't get exactly what I was thinking I was going to get, however I got way more than I could have imagined. It gives a whole new meaning to dreaming big and then handing it over to the Universe because EVERY TIME you do, you will receive way more than you could possibly dream. I've received answers to some of my life long health issues, of which there have been many.

What some of you may not be aware of is that I do all of my research while lounging on my couch between activities such as doing artwork, watering plants and laundry. All of my world travels, by way of the internet, while doing genealogy keep me from going stark raving crazy on the days I don't feel well enough to leave home. Meanwhile my friends and family travel the world and post photos on facebook.

This week's discoveries play a HUGE part in possibly solving some of my rare and potentially dangerous health issues. About 3 months ago I joined the "New Mexico Genealogical Society Facebook Group." I read that there are two rare mutations that exist largely within the Hispanic population of New Mexico that have been passed down to the descendants of the early Spanish colonists. When I read it I thought "Oh, that would be me." Then I got really busy dealing with some potentially serious cardio and neurological issues so I put this information aside. Silly me... if I had known what I know now, I would have taken all this data to the specialists that I have been seeing in the past couple of months.

So the first of the  two rare mutations and potentially most dangerous is the CCM1 mutation called "Cerebral Cavernous Malformation." It is causes abnormal blood vessels to form raspberry like clusters, known as angiomas, in the brain or spinal cord. Cavernous Angiomas can occur in other parts of the body but with the CCM1 mutation, the angiomas occur in the brain and spine. The walls of the capillaries are thinner than normal, less elastic, and prone to leaking. Interestingly enough that was exactly how my cardiologist explained a congenital heart condition I have that he had never seen before. I have a right aortic arch. This means that my aortic arch developed on the right side of my airway instead of the left side.The aorta is the large artery that carries oxygenated blood out of the heart. The aorta forms an aortic arch along the top of the heart as it travels to the body. To make things worse, I have an aneurysm on my right sided aortic arch so I am required to see my cardiologist every 6 months to make sure the aneurysm doesn't get any larger than 3 mm. I have often wondered if this aneurysm is part of the CCM1 mutation... that is a whole other issue.

At any rate, in the brain and spine, if the angiomas bleed or press up against structures in the central nervous system, they can cause seizures, neurological deficits, weakness and burning in arms and legs as well as problems with vision, balance, memory and headaches, or hemorrhages. Okay... just hold on right there! I have had seizures, neurological problems, weakness and burning in my arms, legs and neck as well as problems with vision, balance, memory and severe headaches beginning at the age of 15. And progressively getting worse!

About 7 years ago, after a very bad bout with the spinal issue, I got an MRI and I was diagnosed with a rare disease called Syringmyelia. That's just a big word for a cyst within the spinal cord that presses up against structures in the central nervous system causing severe headaches, pain, weakness and stiffness in the back, shoulders, and extremities. Uh.... ya think maybe I was misdiagnosed? Maybe, just maybe I have been dealing with CCM1 all along. Not Syringomyelia. It has almost become a family joke when I say I have the "wah-wahs" meaning "I have this weird over sensory sensation in my brain, like it isn't firing correctly." For years these episodes would only last for a few minutes. Now the over sensory brain misfiring episodes comes with pressure on my spine and it lasts off and on for about 2 days.

The second rare mutation is called Oculopharyngeal Muscular Dystrophy, or OPMD. The gene that’s defective in OPMD was discovered in 1998. Symptoms usually do not begin until the mid-40s or 50s. A person with OPMD may tend to choke frequently and have difficulty swallowing. Yeap... I have that symptom for sure. My friend, Winker had to take me to the ER once when the spasm in my throat lasted 3 hours when it would normally only last about 5 minutes. I now take meds for it. Now I just have a raspy, dry throat and voice and I cough and choke all the time. Another symptom is droopy eyelids. I stopped wearing eye make up a couple of years ago because my eyes are so droopy. I was complaining to my friend Lana about my droopy eyes once and she thought it was because I had been crying over a stupid man. NOT.

"The New York Times" did a story about both of these diseases in 2007.
You can read it here: Heirs to a Rare Legacy in New Mexico

In the interview with Joyce Gonzalez she said she suffers from CCM1 and the same genetic mutation caused a cerebral hemorrhagic death of her 9-year-old cousin, Jenae Gallegos and that many relatives in her mother’s family have had seizures. As she said in the article, it is easy to trace the Hispanic families that have lived in New Mexico for over 400 years, we’re practically all cousins. That led her to trace the genealogies of other Hispanic families with histories of CCM1. Her complex genealogical chart had five converging family trees that pointed to one man, Gerónimo Márquez, the 16th-century patriarch of her family. So I immediately looked at my family tree and found that Gerónimo Márquez is in fact my 10th great-grandfather on my maternal grandmothers branch of my family tree.

Then I heard an NPR interview recorded in 2013 and in the recording they pointed at Juan Perez de Bustillo as the carrier of the mutated gene. Again I went to ancestry.com and found that Juan Perez Bustillo is my 11th great-grandfather on my paternal father's branch of my family tree. So to map the disease, researchers have created some very complicated family trees to identifying descendants who may have CCM1. I am guessing since I don't live in New Mexico, I wasn't contacted. I spoke to a cousin and his wife in Santa Rosa, NM the other night. His wife and two children have CCM1 and the 2 children have had to have surgery to remove the angiomas. The first of the two was in the late 70's and was thought to be a brain tumor.

My prayer is that all of this genealogy research may have lead me to the answers to my life long health issues and that with my brother's findings that we may be able to start to heal. It affirms to me that by paying attention to what our hearts tells us to do, we discover very precious information. I am sharing my journey in hopes that others don't have to wait until they are 59 years old to have answers to life long health issues, or even better... maybe it will save a precious life.

Let the healing begin!

Please read the links below.

You can listen to the NPR radio show here.

Rare Brain Disorder Plagues New Mexico Hispanics

New Mexican lawmakers say more investigation needed for rare brain and spinal disorder 

New Mexico Congressional Delegation Seeks to Help Hispanics with Rare Genetic Disease

Update!

In 2017, Alliance to Cure Cavernous Malformation began the Baca Family Historical Project to find and connect descendants of Cristóbal Baca II and Ana Morena de Lara. Our mission is to foster a community for better health outcomes. Through our work, the genealogy of the Common Hispanic Mutation is becoming clearer. Joyce Gonzales, the staff genealogist has written a summary of what is known in A Tale of Three Cristobal’s.

There's now information available about genetic testing for the Common Hispanic Mutation through Ancestry DNA and Promethease.

Alliance to Cure can be contacted at this website:

https://www.alliancetocure.org/